ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828328773
Gene: MUSK
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001356327.1:p.Val395Leu
CA5184629
NM_001369398.1:c.1183G>T
CA5184630
NM_001369398.1:c.1183G>C